Article

Distinct mechanisms of CNV formation at the human 15q13.3 locus

2026-03-05

Abstract excerpt

Human chromosome 15q13.3 is a hotspot for recurrent pathogenic copy number variants (CNVs), which remain unresolved at the sequence level. We generated haplotype-resolved assemblies for 10 patient-parent trios and found that both the long (“BP4-BP5”) and short (“CHRNA7”) forms of 15q13.3 CNVs arise predominantly by non-allelic homologous recombination (NAHR) enabled by inversion polymorphisms. While most BP4-BP5 C...

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Literature Corpus work: 0880a681-3cf0-52e7-a1d8-6400b5eb59ff
DOI: 10.64898/2026.03.03.709017

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